Description
Product Characteristics: The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified.,SMPD1,ASM,ASMASE,NPD,SMPD1/ASM,Cancer,Signal Transduction,Cell Biology & Developmental Biology,Apoptosis,Endocrine & Metabolism,Lipid Metabolism,Neuroscience,Neurodegenerative Diseases,SMPD1
Target Information: The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2010]